Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000407481 | SCV000342119 | uncertain significance | not provided | 2018-05-18 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000559267 | SCV000649957 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000407481 | SCV001475410 | uncertain significance | not provided | 2020-07-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000407481 | SCV002008407 | uncertain significance | not provided | 2021-09-15 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24282183) |
Revvity Omics, |
RCV000407481 | SCV003811727 | uncertain significance | not provided | 2020-06-10 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001277250 | SCV001464158 | uncertain significance | Muscle eye brain disease | 2020-03-17 | no assertion criteria provided | clinical testing | |
Institute of Human Genetics, |
RCV004816507 | SCV005071222 | uncertain significance | Retinal dystrophy | 2020-01-01 | no assertion criteria provided | clinical testing |